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Tribute to Dr. Lap-Chee Tsui

机译:向徐立志博士致敬

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When it became apparent that traits and their corresponding genes could be tracked through chromosomes by molecular methods, it was realized that the underlying bases of many genetic diseases could be elucidated. Soon after linkage analysis was first proposed in 1980 (Botstein et al., Am. J. Hum. Genet. 32: 314–331), Dr. Lap-Chee Tsui embarked on his pursuit to identify the gene that is affected in cystic fibrosis. Cystic fibrosis is inherited in an autosomal recessive pattern and its causal gene did not reveal itself easily. In the early 1980s, chromosomes were largely unexplored, as much less than 1% of the human genomic sequence was available. Further, while known genes numbered in the few thousands, there were only a few hundred landmarks available to actually track chromosomal segments. In these early days, Dr. Tsui and his colleagues began collecting data on families of patients with cystic fibrosis with the help of the Canadian Cystic Fibrosis Foundation.
机译:当可以通过分子方法通过染色体追踪性状及其相应基因时,人们意识到可以阐明许多遗传疾病的潜在基础。在1980年首次提出连锁分析后不久(Botstein等人,Am。J. Hum。Genet。32:314-331),Lap-Chee Tsui博士开始着手鉴定受囊性纤维化影响的基因。囊性纤维化以常染色体隐性遗传,其致病基因不易显示。在1980年代初期,人们对染色体的探索还很少,因为只有不到1%的人类基因组序列可用。此外,尽管已知基因有数千种,但只有几百个界标可用于实际跟踪染色体片段。在早期,Tsui博士及其同事在加拿大囊性纤维化基金会的帮助下开始收集有关囊性纤维化患者家庭的数据。

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